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TCTTGTCATCATCTCTCAAAACACC[A/G]TCTATTATGTTAATCAGTTCATCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607788 | ||||||||||||||||||||
Literature Links: |
MCFD2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MCFD2 - multiple coagulation factor deficiency 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171506.2 | 504 | Intron | NP_001164977.1 | |||
NM_001171507.2 | 504 | Silent Mutation | GAC,GAT | D,D 122 | NP_001164978.1 | |
NM_001171508.2 | 504 | Silent Mutation | GAC,GAT | D,D 122 | NP_001164979.1 | |
NM_001171509.2 | 504 | Intron | NP_001164980.1 | |||
NM_001171510.2 | 504 | Intron | NP_001164981.1 | |||
NM_001171511.2 | 504 | Silent Mutation | GAC,GAT | D,D 103 | NP_001164982.1 | |
NM_139279.5 | 504 | Intron | NP_644808.1 |